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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for ATXN8 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID724066
Official gene symbolATXN8
Full nameataxin 8
Aliases,ATXN3,
Gene summarySpinocerebellar ataxia-8 (SCA8; {608768}) is a neurodegenerative disorder caused by a CTG/CAG trinucleotide repeat expansion on chromosome 13q21 (see {603680.0001} and {613289.0001}). Two genes span the CTG/CAG repeat and are expressed in opposite directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAG direction, and ATXN8OS ({603680}), which, when transcribed, produces a noncoding CUG expansion RNA ({2:Moseley et al., 2006}).[supplied by OMIM]
LocationChromosome: 13   Locus: 13q21
Gene position1 - 1  Map Viewer
Gene orientation
Gene size1 bp
Gene sequence
OMIM ID613289